• Login
    Search 
    •   DSpace Home
    • INVESTIGACIÓN
    • Search
    •   DSpace Home
    • INVESTIGACIÓN
    • Search
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    El Repositorio Institucional de la Universidad Mayor, tiene como objetivo publicar, en formato digital, todos los objetos derivados de su producción científica, académica, cultural y artística. En palabras simples es una vitrina que pone en valor su patrimonio documental.

    Browse

    All of DSpaceCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CommunityBy Issue DateAuthorsTitlesSubjects

    xmlui.EPerson.Navigation.loginxmlui.EPerson.Navigation.register

    Discover

    AuthorPatel, Aara; Hayward, Jane D.; Tailor, Vijay; Nyanhete, Rodney; Ahlfors, Helena; Gabriel, Camila; Jannini, Tommaso B.; Abbou-Rayyah, Yassir; Henderson, Robert; Nischal, Ken K.; Islam, Lily; Bitner-Glindzicz, Maria; Hurst, Jane; Zanolli, Mario; Moosajee, Mariya; Brookes, John; Papadopoulos, Maria; Khaw, Peng T.; Cullup, Thomas; Jenkins, Lucy; Dahlmann-Noor, Annegret; Sowden, Jane C. (1)Valdivia, Leonardo E. [Univ Mayor, Fac Ciencias, Ctr Integrat Biol, Santiago, Chile] (1)Subject
    Ophthalmology (1)
    ... View MoreDate Issued2019 (1)

    Search

    Show Advanced FiltersHide Advanced Filters

    Filters

    Use filters to refine the search results.

    Now showing items 1-1 of 1

    • Sort Options:
    • Relevance
    • Title Asc
    • Title Desc
    • Issue Date Asc
    • Issue Date Desc
    • Results Per Page:
    • 5
    • 10
    • 20
    • 40
    • 60
    • 80
    • 100
    Thumbnail

    The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders 

    Valdivia, Leonardo E. [Univ Mayor, Fac Ciencias, Ctr Integrat Biol, Santiago, Chile]; Patel, Aara; Hayward, Jane D.; Tailor, Vijay; Nyanhete, Rodney; Ahlfors, Helena; Gabriel, Camila; Jannini, Tommaso B.; Abbou-Rayyah, Yassir; Henderson, Robert; Nischal, Ken K.; Islam, Lily; Bitner-Glindzicz, Maria; Hurst, Jane; Zanolli, Mario; Moosajee, Mariya; Brookes, John; Papadopoulos, Maria; Khaw, Peng T.; Cullup, Thomas; Jenkins, Lucy; Dahlmann-Noor, Annegret; Sowden, Jane C. (ELSEVIER SCIENCE INC, 2019)
    Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort ...


    Contact Us | Send Feedback
    Modificado por: Sistema de Bibliotecas Universidad Mayor - SIBUM
    DSpace software copyright © 2002-2018  DuraSpace
     

     



    Contact Us | Send Feedback
    Modificado por: Sistema de Bibliotecas Universidad Mayor - SIBUM
    DSpace software copyright © 2002-2018  DuraSpace